Background Water serves as an indispensable resource for human survival and constitutes one of the primary means through which humans are exposed to environmental chemicals. Consequently, the safety of drinking water is critical to safeguarding public health. Objective To analyze the levels of the 10 metal/metalloid indicators [Al, Fe, Mn, Cu, Zn, As, Cd, Cr(VI), Pb, and Hg] in drinking water from a region of the Fuchun River Basin, and to evaluate the health risks in drinking water through oral ingestion. Methods In accordance with the national Standard Examination Method for Drinking Water – Part 2: Collection and Preservation of Water Samples (GB/T 5750-2006 and GB/T 5750-2023), a total of 2016 drinking water samples were collected from urban and rural water supply systems in a region of the Fuchun Basin from 2017 to 2024. Two batches of water samples were collected annually during the dry and wet seasons, with each batch comprising 72 samples from the urban water supply system and 54 samples from the rural water supply system. These samples were analyzed according to the Standard Examination Method for Drinking Water – Part 6: Metal and Metalloid Indicators (GB/T 5750-2006 and GB/T 5750-2023) and the results were compared with the limits specified in the Standards for Drinking Water Quality (GB 5749-2022). Health risks were evaluated using the U.S. Environmental Protection Agency (EPA) health risk assessment model. Results All tested metal/metalloid elements in the drinking water samples of the area met the national standards. The results of risk assessment showed that the non-carcinogenic risks associated with oral intake of drinking water, ranked from highest to lowest, were as follows: As>Cr(VI)>Pb>Cd>Hg>Mn>Cu>Zn>Fe>Al, with values of 4.55×10⁻², 2.79×10⁻², 2.06×10⁻², 1.20×10⁻², 4.95×10⁻³, 4.58×10⁻³, 2.85×10⁻³, 1.95×10⁻³, 1.52×10⁻³, and 9.21×10⁻⁴, respectively. The non-carcinogenic risk of each indicator was less than 1, which suggested no potential risk to population health. The carcinogenic risks ranked as Cr(VI)>As>Cd>Pb, with values of 4.18×10⁻⁵, 2.05×10⁻⁵, 3.85×10⁻⁶, and 2.45×10⁻⁷, respectively. The carcinogenic risks of Cr(VI), As, and Cd were between 10⁻⁶ and 10⁻⁴, which suggested an acceptable carcinogenic risk, while the carcinogenic risk of Pb was relatively negligible. Children's total non-carcinogenic/total carcinogenic risks were comparable to those of adult males, both higher than those of adult females. Additionally, rural areas exhibited higher non-carcinogenic/carcinogenic risks for Cr(VI), while those risks for As and Pb were lower than those in urban water samples, and those risks for Cd were comparable between the two. Conclusion The concentrations of the 10 metal/metalloid indicators in drinking water from the studied region in the Fuchun River Basin comply with the national standards from 2017 to 2024. There is a certain carcinogenic risk associated with oral intake of drinking water, but it is still within the acceptable range. In terms of non-carcinogenic risk, no potential threat to population health is anticipated.

Objective:To analyze the clinical characteristics and genetic profile of patients with 46, XY Disorders of sex development (DSD) and a female phenotype in order to provide insights for the diagnosis and management of similar cases.Methods:A retrospective analysis was conducted on 36 children with 46, XY DSD and a female phenotype who were treated at the Department of Endocrinology, Genetics and Metabolism of Henan Children′s Hospital between March 1, 2016, and June 30, 2024. The evaluations included external genitalia scoring using the Prader scale and External Masculinization Score (EMS), imaging studies to assess gonadal development, and assessments of adrenal and gonadal function via adrenal hormone levels, sex hormone levels, and human chorionic gonadotropin (hCG) stimulation testing. Gender role behavior was assessed using gender role scales and sandplay therapy. Whole exome sequencing and Sanger sequencing were used to identify and validate genetic variants. A multidisciplinary team (MDT) comprehensively determined gender rearing based on molecular genetic diagnosis. This study was approved by the Medical Ethics Committee of Henan Children′s Hospital (Ethics No.: 2024-K-105).Results:The median age at initial consultation was 3 years and 1 month (range: 7 days to 16 years). Common symptoms included primary amenorrhea, clitoromegaly, and inguinal hernia. Fully feminized external genitalia were observed in 52.7% of the cases, and 80.5% had absence of the uterus. Internal gonads included absent gonads (5.6%), ovotestes (8.3%), streak gonads (5.6%), cryptorchidism (75.0%), and normally positioned testes (5.6%). At initial diagnosis, median luteinizing hormone (LH) was 1.305 IU/L, with elevated LH in 14 cases. Median follicle-stimulating hormone (FSH) was 4.87 IU/L, with elevated FSH in 17 cases. Median testosterone was 0.025 ng/mL. Median dihydrotestosterone (DHT) was 36.90 pg/mL. After hCG stimulation, median testosterone was 0.984 ng/mL and median DHT was 71.69 pg/mL. The testosterone/DHT ratio was elevated in one case (35.7). Testosterone levels remained below 1 ng/mL after hCG stimulation in 18 cases. Anti-Müllerian hormone (AMH) was decreased in 15 cases and increased in 3 cases. Inhibin B (InhB) was increased in 7 cases and decreased in 4 cases. Pathogenic variants were detected in 88.9% of the patients, involving AR (11 cases), CYP17A1 (4 cases), GATA4 (1 case), NR0B1 (1 case), NR5A1 (7 cases), SRD5A2 (1 case), WT1 (2 cases), STAR (4 cases), and LHCGR (1 case), totaling 34 variant sites. Among these, 9 variants were de novo, and 23 were inherited from parents. Sixteen variant sites were previously unreported. Gender assignment was male in 11 cases (30.6%) and female in 25 cases (69.4%). Conclusion:Common symptoms in 46, XY DSD patients with a female phenotype include primary amenorrhea, clitoromegaly, and inguinal hernia. Elevated FSH, androgen deficiency, and decreased AMH and InhB may indicate testicular dysgenesis or impaired androgen synthesis. Adrenal insufficiency should raise suspicion for defects in steroid hormone synthesis pathway enzymes.

OBJECTIVE: To analyze the clinical characteristics and genetic profile of patients with 46,XY Disorders of sex development (DSD) and a female phenotype in order to provide insights for the diagnosis and management of similar cases. METHODS: A retrospective analysis was conducted on 36 children with 46,XY DSD and a female phenotype who were treated at the Department of Endocrinology, Genetics and Metabolism of Henan Children's Hospital between March 1, 2016, and June 30, 2024. The evaluations included external genitalia scoring using the Prader scale and External Masculinization Score (EMS), imaging studies to assess gonadal development, and assessments of adrenal and gonadal function via adrenal hormone levels, sex hormone levels, and human chorionic gonadotropin (hCG) stimulation testing. Gender role behavior was assessed using gender role scales and sandplay therapy. Whole exome sequencing and Sanger sequencing were used to identify and validate genetic variants. A multidisciplinary team (MDT) comprehensively determined gender rearing based on molecular genetic diagnosis. This study was approved by the Medical Ethics Committee of Henan Children's Hospital (Ethics No.: 2024-K-105). RESULTS: The median age at initial consultation was 3 years and 1 month (range: 7 days to 16 years). Common symptoms included primary amenorrhea, clitoromegaly, and inguinal hernia. Fully feminized external genitalia were observed in 52.7% of the cases, and 80.5% had absence of the uterus. Internal gonads included absent gonads (5.6%), ovotestes (8.3%), streak gonads (5.6%), cryptorchidism (75.0%), and normally positioned testes (5.6%). At initial diagnosis, median luteinizing hormone (LH) was 1.305 IU/L, with elevated LH in 14 cases. Median follicle-stimulating hormone (FSH) was 4.87 IU/L, with elevated FSH in 17 cases. Median testosterone was 0.025 ng/mL. Median dihydrotestosterone (DHT) was 36.90 pg/mL. After hCG stimulation, median testosterone was 0.984 ng/mL and median DHT was 71.69 pg/mL. The testosterone/DHT ratio was elevated in one case (35.7). Testosterone levels remained below 1 ng/mL after hCG stimulation in 18 cases. Anti-Müllerian hormone (AMH) was decreased in 15 cases and increased in 3 cases. Inhibin B (InhB) was increased in 7 cases and decreased in 4 cases. Pathogenic variants were detected in 88.9% of the patients, involving AR (11 cases), CYP17A1 (4 cases), GATA4 (1 case), NR0B1 (1 case), NR5A1 (7 cases), SRD5A2 (1 case), WT1 (2 cases), STAR (4 cases), and LHCGR (1 case), totaling 34 variant sites. Among these, 9 variants were de novo, and 23 were inherited from parents. Sixteen variant sites were previously unreported. Gender assignment was male in 11 cases (30.6%) and female in 25 cases (69.4%). CONCLUSION Common symptoms in 46,XY DSD patients with a female phenotype include primary amenorrhea, clitoromegaly, and inguinal hernia. Elevated FSH, androgen deficiency, and decreased AMH and InhB may indicate testicular dysgenesis or impaired androgen synthesis. Adrenal insufficiency should raise suspicion for defects in steroid hormone synthesis pathway enzymes.
Humans ; Female ; Disorder of Sex Development, 46,XY/diagnosis* ; Child ; Male ; Phenotype ; Child, Preschool ; Retrospective Studies ; Adolescent ; Infant

Objective:To analyze the clinical characteristics and genetic profile of patients with 46, XY Disorders of sex development (DSD) and a female phenotype in order to provide insights for the diagnosis and management of similar cases.Methods:A retrospective analysis was conducted on 36 children with 46, XY DSD and a female phenotype who were treated at the Department of Endocrinology, Genetics and Metabolism of Henan Children′s Hospital between March 1, 2016, and June 30, 2024. The evaluations included external genitalia scoring using the Prader scale and External Masculinization Score (EMS), imaging studies to assess gonadal development, and assessments of adrenal and gonadal function via adrenal hormone levels, sex hormone levels, and human chorionic gonadotropin (hCG) stimulation testing. Gender role behavior was assessed using gender role scales and sandplay therapy. Whole exome sequencing and Sanger sequencing were used to identify and validate genetic variants. A multidisciplinary team (MDT) comprehensively determined gender rearing based on molecular genetic diagnosis. This study was approved by the Medical Ethics Committee of Henan Children′s Hospital (Ethics No.: 2024-K-105).Results:The median age at initial consultation was 3 years and 1 month (range: 7 days to 16 years). Common symptoms included primary amenorrhea, clitoromegaly, and inguinal hernia. Fully feminized external genitalia were observed in 52.7% of the cases, and 80.5% had absence of the uterus. Internal gonads included absent gonads (5.6%), ovotestes (8.3%), streak gonads (5.6%), cryptorchidism (75.0%), and normally positioned testes (5.6%). At initial diagnosis, median luteinizing hormone (LH) was 1.305 IU/L, with elevated LH in 14 cases. Median follicle-stimulating hormone (FSH) was 4.87 IU/L, with elevated FSH in 17 cases. Median testosterone was 0.025 ng/mL. Median dihydrotestosterone (DHT) was 36.90 pg/mL. After hCG stimulation, median testosterone was 0.984 ng/mL and median DHT was 71.69 pg/mL. The testosterone/DHT ratio was elevated in one case (35.7). Testosterone levels remained below 1 ng/mL after hCG stimulation in 18 cases. Anti-Müllerian hormone (AMH) was decreased in 15 cases and increased in 3 cases. Inhibin B (InhB) was increased in 7 cases and decreased in 4 cases. Pathogenic variants were detected in 88.9% of the patients, involving AR (11 cases), CYP17A1 (4 cases), GATA4 (1 case), NR0B1 (1 case), NR5A1 (7 cases), SRD5A2 (1 case), WT1 (2 cases), STAR (4 cases), and LHCGR (1 case), totaling 34 variant sites. Among these, 9 variants were de novo, and 23 were inherited from parents. Sixteen variant sites were previously unreported. Gender assignment was male in 11 cases (30.6%) and female in 25 cases (69.4%). Conclusion:Common symptoms in 46, XY DSD patients with a female phenotype include primary amenorrhea, clitoromegaly, and inguinal hernia. Elevated FSH, androgen deficiency, and decreased AMH and InhB may indicate testicular dysgenesis or impaired androgen synthesis. Adrenal insufficiency should raise suspicion for defects in steroid hormone synthesis pathway enzymes.

Objective To understand the epidemiological characteristics of Chlamydia trachomatis infection in Hubei province, and to provide scientific basis for prevention and control. Methods The data of Chlamydia trachomatis infection cases reported through the China Information System for Disease Control and Prevention from 2008 to 2022 were collected for epidemiological statistical analysis. Results The incidence of Chlamydia trachomatis infection in Hubei Province showed an increasing trend from 2008 to 2022, with an average annual reported incidence of 2.26/100 000. The top three reported incidence areas were Shiyan (6.04/100 000), Yichang (5.62/100 000) and Shennongjia (3.47/ 100 000). The reported incidence in southeast area was significantly higher than that in other areas (χ²=2869.603 , P < 0.001). The high incidence age group was 20-39 years old, accounting for more than 70%. The reported incidence in females was higher than that in males (χ²=1429.27 , P < 0.001). Housework and unemployment were the most common professions (43.54%). The case reporting institutions were mainly comprehensive hospitals (87.29%). Conclusion To effectively control the infection and transmission of Chlamydia trachomatis, it is necessary to strengthen the health popularization of STD knowledge, intervention and early active screening of high-risk groups.

Objective:To explore the clinical characteristics and genetic variants of two children with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD).Methods:Two children with HMGCLD diagnosed at Henan Provincial Children′s Hospital respectively in December 2019 and June 2022 were selected as the study subjects. Clinical data and results of laboratory testing were analyzed retrospectively.Results:Both children had manifested with repeated convulsions, severe hypoglycemia, metabolic acidosis and liver dysfunction. Blood amino acids and acylcarnitine analysis showed increased 3-hydroxy-isovalyl carnitine (C5OH) and 3-hydroxy-isovalyl carnitine/capryloyl carnitine ratio (C5OH/C8), and urinary organic acid analysis showed increased 3-hydroxyl-3-methyl glutaric acid, 3-methyl glutaric acid, 3-methyl glutacoic acid, 3-hydroxyisoglycine and 3-methylprotarylglycine. Child 1 was found to harbor homozygous c. 722C>T variants of the HMGCL gene, which was rated as uncertain significance(PM2_Supporting+ PP3). Child 2 was found to harbor homozygous c. 121C>T variants of the HMGCL gene, which was rated as pathogenic(PVS1+ PM2_Supporting+ PP4). Conclusion:Acute episode of HMGCLD is usually characterized by metabolic disorders such as hypoglycemia and metabolic acidosis, and elevated organic acids in urine may can facilitate the differential diagnosis, though definite diagnosis will rely on genetic testing.

Objective:The clinical and molecular genetic characteristics of 46, XY disorders of sex development caused by NR5A1 gene variants in 15 cases were analyzed to improve the understanding of this disease. Methods:The clinical data of children with NR5A1 gene variants diagnosed at the Children′s Hospital Affiliated to Zhengzhou University from March 2016 to December 2021 were retrospectively analyzed. Whole exome sequencing was performed to confirm the candidate sites, and Sanger sequencing was performed for validation. The patients were treated and followed up according to their disease characteristics. Results:At the initial diagnosis, 5 of the 15 cases were raised as females and 10 as males. The gonadal tissue was testis without residual Müllerian or ooticular structure, and all had various degrees of genital abnormalities. The average EMS masculinity score was 4.8 (1~9), including micropenis (100.0%), hypospadia (86.7%), unfused scrotum (46.7%), and abnormal testicular position (60.0%), in which the hypospadias was Ⅱ°~Ⅳ°. There was no skin pigmentation in 5 patients with growth retardation. Chromosomol karyotypes were 46, XY, adrenocorticotropin and cortisol levels were normal, electrolyte levels were normal, HCG stimulation test in 5 cases had normal response, 9 cases had low response. Anti-Müllerian hormone and statin B had decreased abnormally with age. A total of 14 NR5A1 variants were detected in the 15 children, most of which occurred in exon 4, of which 9 variant loci were not included in the HGMD database as of December 2022. Conclusion:The clinical phenotype of 46, XY abnormal sexual development caused by NR5A1 gene variants is extensive, with the external genitals showing varying degrees of insufficient masculinization. Adrenal involvement is rare.

Objective:To analyze clinical and genetic characteristics of congenital hypogonadotropic hypogonadism(CHH) in children.Methods:Clinical data of 0-18 year old CHH patients diagnosed in the Department of Endocrinology, Genetics and Metabolism of Children′s Hospital Affiliated to Zhengzhou University from January 1, 2016 to December 31, 2023 were retrospectively analyzed, including their hormone levels and genetic test results.Results:A total of 95 patients with CHH were included. Among them, 25 were diagnosed before the age of 3, 37 between the ages of 3-14, and 33 were over 14 years old at the time of first diagnosis. The primary manifestations were micropenis(95 cases, 100%) and cryptorchidism(46 cases, 48.5%). The incidence of cryptorchidism was the lowest in the group over 14 years of age. Hormonal analysis revealed that the peak levels of LH following statin B and GnRH stimulation, the peak levels of FSH after GnRH stimulation, and testosterone levels following hCG stimulation were the highest in the infant group. Genetic analysis identified 20 CHH-related genes in 61 out of 77 cases.Double-gene mutation accounted for 7.8%(6/77) and triple-gene mutation accounted for 3.9%(3/77). The most common mutations were FGFR1(18/77, 23.4%), CHD7(12/77, 15.6%), PROKR2(11/77, 14.3%) and ANOS1(6/77, 7.8%). The incidence of cryptorchidism in these four genotypes was 50%, 75%, 45.5% and 83.3%, respectively. The incidence of testicular dysfunction was 22.2%, 16.7%, 27.3%, and 16.7%, respectively, with no statistical significance.Conclusion:The primary manifestation of CHH is micropenis and cryptorchidism. In children with CHH, the incidence of testicular Leydig cell and Sertoli cell dysfunction increased with age in CHH children. FGFR1, CHD7, PROKR2 and ANOS1 were common variants of CHH.

Purpose To investigate the value of T2WI MR-based radiomics nomogram for predicting deep stromal invasion of cervical cancer preoperatively.Materials and Methods Retrospective analysis of 164 consecutive patients with early-stage cervical cancer with postoperative pathological findings and preoperative MR images admitted to two medical centers in the Affiliated Hospital of Southwest Medical University(first center)and the Huaihe Hospital of Henan University(second center)from May 2018 to August 2022.The data in the first center(n=1 14)and the second center(n=50)were divided into the training and validation cohorts,respectively.To segment T2WI images in the 3D Slicer software and to extract image features in the python software.The radiomic features were selected in the training cohort.Based on the selected features,support vector machine prediction model was constructed.Univariate Logistic regression was used to select clinicopathological risk factors,then,multi-variate Logistic regression combined with radiomics score was used to construct radiomics nomogram,diagnostic performance of the radiomics model,clinical prediction model and radiomics nomogram model were assessed by receiver operating characteristic analysis.The predictive efficacy of the different models were compared.Results The 12 radiomics features were selected out.The FIGO staging and radiomics score were included in the multifactor Logistic regression to build the radiomics nomogram for predicting deep stromal invasion.The results showed that the predictive performance for the radiomics nomogram model was better than the clinical prediction model(in validation cohort:area under the curve was 0.845 vs.0.717;Z=2.728,P=0.006).Conclusion Radiomics nomogram based on T2WI is of high value for predicting deep stromal invasion of cervical cancer preoperatively.

Polyurethane (PUR) plastics is widely used because of its unique physical and chemical properties. However, unreasonable disposal of the vast amount of used PUR plastics has caused serious environmental pollution. The efficient degradation and utilization of used PUR plastics by means of microorganisms has become one of the current research hotspots, and efficient PUR degrading microbes are the key to the biological treatment of PUR plastics. In this study, an Impranil DLN-degrading bacteria G-11 was isolated from used PUR plastic samples collected from landfill, and its PUR-degrading characteristics were studied. Strain G-11 was identified as Amycolatopsis sp. through 16S rRNA gene sequence alignment. PUR degradation experiment showed that the weight loss rate of the commercial PUR plastics upon treatment of strain G-11 was 4.67%. Scanning electron microscope (SEM) showed that the surface structure of G-11-treated PUR plastics was destroyed with an eroded morphology. Contact angle and thermogravimetry analysis (TGA) showed that the hydrophilicity of PUR plastics increased along with decreased thermal stability upon treatment by strain G-11, which were consistent with the weight loss and morphological observation. These results indicated that strain G-11 isolated from landfill has potential application in biodegradation of waste PUR plastics.
Plastics/metabolism* ; Polyurethanes/chemistry* ; RNA, Ribosomal, 16S ; Bacteria/genetics* ; Biodegradation, Environmental